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Case Reports
. 2010:2010:621984.
doi: 10.1155/2010/621984. Epub 2010 Mar 21.

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation

Simone Dressler  1 , Philipp Meyer-Marcotty, Nicole Weisschuh, Anahita Jablonski-Momeni, Klaus Pieper, Gwendolyn Gramer, Eugen Gramer
Affiliations
Case Reports

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation

Simone Dressler et al. Case Rep Med. 2010.

Abstract

Axenfeld-Rieger syndrome (ARS) (OMIM Nr.: 180500) is a rare autosomal dominant disorder (1 : 200000) with genetic and morphologic variability. Glaucoma is associated in 50% of the patients. Craniofacial and dental anomalies are frequently reported with ARS. The present study was designed as a multidisciplinary analysis of orthodontic, ophthalmologic, and genotypical features. A three-generation pedigree was ascertained through a family with ARS. Clinically, radiographic and genetic analyses were performed. Despite an identical genotype in all patients, the phenotype varies in expressivity of craniofacial and dental morphology. Screening for PITX2 and FOXC1 mutations by direct DNA-sequencing revealed a P64L missense mutation in PITX2 in all family members, supporting earlier reports that PITX2 is an essential factor in morphogenesis of teeth and craniofacial skeleton. Despite the fact that the family members had identical mutations, morphologic differences were evident. The concomitant occurrence of rare dental and craniofacial anomalies may be early diagnostic indications of ARS. Early detection of ARS and elevated intraocular pressure (IOP) helps to prevent visual field loss.

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Figures

Figure 1
Figure 1
Three-generation pedigree of the reported family.
Figure 2
Figure 2
Embryotoxon posterius (↑) and hypoplasia of the iris in patient 1.
Figure 3
Figure 3
OTP (11 years 3 months) showing agenesis of the upper lateral incisors, taurodontism of the molars, and microdontia with crown hypoplasia of the upper central incisors and congenital missing 18 and 28 in patient 2.
Figure 4
Figure 4
Corectopia (↑) and hypoplasia (↑↑) of the iris in patient 3.
Figure 5
Figure 5
(a) OTP (15 years) showing agenesis of 18 and 15,12, 22, 23, 25, 35, 45; hypoplasia of the crowns of the upper central incisors in patient 3. (b) Severe root resorptions of the lower incisors and the lower first molars in patient 3 after correction of the skeletal Class III relationship by means of combined orthodontic-orthognathic therapy.
Figure 6
Figure 6
Lateral cephalogram of patient 3 showing a skeletal Class III relationship.
Figure 7
Figure 7
Protuberant umbilicus in patient 4.
Figure 8
Figure 8
(a) OPT (6 years and 4 months) showing agenesis of upper molars in patient 4. (b) OPT (18 years) showing taurodontism of upper and lower molars and paraplasia on the distal aspect of the right upper third molar in patient 4.
Figure 9
Figure 9
Frequency of agenesis of permanent upper teeth in 15 patients with ARS and hypodontia.
Figure 10
Figure 10
Frequency of agenesis of permanent lower teeth in 15 patients with ARS and hypodontia.
See this image and copyright information in PMC

References

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